A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723670



Internal ID9957970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44509408..44509521hg38UCSC Ensembl
Outerchr21:45929291..45929404hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675126
SamplesSSM031
Known GenesTSPEAR, TSPEAR-AS1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2723670
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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